NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)
|
rs200478425
|
0.00006
|
NM_006118.4(HAX1):c.568C>T (p.Gln190Ter)
|
rs74315322
|
0.00004
|
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)
|
rs587777727
|
0.00003
|
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter)
|
rs121908165
|
0.00002
|
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)
|
rs782269909
|
0.00001
|
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)
|
rs587777730
|
0.00001
|
NM_138387.4(G6PC3):c.758G>A (p.Arg253His)
|
rs118203968
|
0.00001
|
NM_000760.4(CSF3R):c.1245del (p.Thr416fs)
|
rs606231474
|
|
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)
|
rs606231473
|
|
NM_000760.4(CSF3R):c.948_963del (p.His317fs)
|
rs606231475
|
|
NM_000760.4(CSF3R):c.998-2A>T
|
rs879253750
|
|
NM_006118.4(HAX1):c.125dup (p.Ser43fs)
|
rs745666437
|
|
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)
|
rs1572018284
|
|
NM_006118.4(HAX1):c.173dup (p.Pro58_Glu59insTer)
|
rs758657008
|
|
NM_006118.4(HAX1):c.376_434del (p.Arg126fs)
|
|
|
NM_006118.4(HAX1):c.430dup (p.Val144fs)
|
rs770288337
|
|
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn)
|
rs879255237
|
|
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)
|
rs587777728
|
|
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)
|
rs587777731
|
|
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)
|
rs587777729
|
|
NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter)
|
rs118203970
|
|
NM_138387.4(G6PC3):c.346A>G (p.Met116Val)
|
rs267606834
|
|
NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro)
|
rs118203969
|
|
NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg)
|
rs118203971
|
|
NM_138387.4(G6PC3):c.935dup (p.Asn313fs)
|
rs797044567
|
|